Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007276_25007283dup , CM000685.2:g.25007276_25007283dup | GRCh38 |
| NC_000023.10:g.25025393_25025400dup , CM000685.1:g.25025393_25025400dup | GRCh37 |
| NC_000023.9:g.24935314_24935321dup | NCBI36 |
| NG_008281.1:g.13667_13674dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1277_1284dup MANE Select | ENSP00000368332.4:p.Ala429SerfsTer? | |
| ENST00000379044.4:c.1277_1284dup | ENSP00000368332.4:p.Ala429SerfsTer? | |
| NM_139058.2:c.1277_1284dup | NP_620689.1:p.Ala429SerfsTer? | |
| NM_139058.3:c.1277_1284dup MANE Select | NP_620689.1:p.Ala429SerfsTer? |